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GenomicsNational Cancer Institute Genome-Wide Association Study of Renal Cell Carcinoma

The National Cancer Institute (NCI) genome-wide association study (GWAS) of renal cell carcinoma (RCC) was conducted to investigate common genetic variants associated with RCC risk. The GWAS includes 1,453 RCC cases and 3,531 controls of European background from 4 studies (3 cohort, 1 case-con...

phs000351.v1.p1 | EGA
UnknownAge- and Tumor Subtype-Specific Breast Cancer Risk Estimates for CHEK2*1100delC Carriers.
Not available
S-EPMC5019754 | biostudies-literature
GenomicsCell Type Specific Enrichment Of Risk Associated Regulatory Elements At Ovarian Cancer Susceptibility Loci
Understanding the regulatory landscape of the human genome is a central question in complex trait genetics. Most single nucleotide polymorphisms (SNPs) associated with cancer risk lie in non protein-coding regions, implicating regulatory DNA elements as functional targets of susceptibility variants....
ORGANISM(S): Homo sapiens 
2015-04-22 | E-GEOD-68104 | biostudies-arrayexpress
GenomicsA novel recurrent mutation in MITF predisposes to familial and sporadic melanoma

We conducted whole-genome sequencing of probands from several melanoma families, identifying one individual carrying a novel germline variant (c.G1075A, NM_000248.3; p.E318K, NP_000239.1; rs149617956) in the melanoma lineage-specific oncogene MITF. While the variant cosegregated with melanoma in ...

phs000419.v1.p1 | EGA
UnknownPolymorphisms in stromal genes and susceptibility to serous epithelial ovarian cancer: a report from the Ovarian Cancer Association Consortium.
Not available
S-EPMC3103497 | biostudies-literature
UnknownAnalyses of germline variants associated with ovarian cancer survival identify functional candidates at the 1q22 and 19p12 outcome loci.
Not available
S-EPMC5630285 | biostudies-literature
TranscriptomicsA novel recurrent mutation in MITF predisposes to familial and sporadic melanoma
We identified a novel germline mutation of the microphthalmia-associated transcription factor (MITF - E318K). This mutation was found to be present in numerous melanoma families, as well as the general population, where its association with melanoma has a significant effect. We determined the effe...
ORGANISM(S): Homo sapiens 
2011-12-01 | E-GEOD-31269 | biostudies-arrayexpress
UnknownVariation in NF-κB signaling pathways and survival in invasive epithelial ovarian cancer.
Not available
S-EPMC4082406 | biostudies-literature
UnknownA meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11.
Not available
S-EPMC3510753 | biostudies-literature
UnknownLarge-scale evaluation of common variation in regulatory T cell-related genes and ovarian cancer outcome.
Not available
S-EPMC4000890 | biostudies-literature
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